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1.
Eur Rev Med Pharmacol Sci ; 28(9): 3391-3402, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38766802

RESUMEN

OBJECTIVE: Although pure titanium (PT) and its alloys exhibit excellent mechanical properties, they lack biological activity as implants. The purpose of this study was to improve the biological activity of titanium implants through surface modification. MATERIALS AND METHODS: Titanium was processed into titanium discs, where the titanium discs served as anodes and stainless steel served as cathodes, and a copper- and cobalt-doped porous coating [pure titanium model (PTM)] was prepared on the surface of titanium via plasma electrolytic oxidation. The surface characteristics of the coating were evaluated using field emission scanning electron microscopy (FE-SEM), energy dispersive X-ray spectroscopy (EDS), X-ray photoelectron spectroscopy (XPS), atomic force microscopy (AFM), and profilometry. The corrosion resistance of PTM was evaluated with an electrochemical workstation. The biocompatibility and bioactivity of coated bone marrow mesenchymal stem cells (BMSCs) were evaluated through in vitro cell experiments. RESULTS: A copper- and cobalt-doped porous coating was successfully prepared on the surface of titanium, and the doping of copper and cobalt did not change the surface topography of the coating. The porous coating increased the surface roughness of titanium and improved its resistance to corrosion. In addition, the porous coating doped with copper and cobalt promoted the adhesion and spreading of BMSCs. CONCLUSIONS: A porous coating doped with copper and cobalt was prepared on the surface of titanium through plasma electrolytic oxidation. The coating not only improved the roughness and corrosion resistance of titanium but also exhibited good biological activity.


Asunto(s)
Materiales Biocompatibles Revestidos , Cobalto , Cobre , Células Madre Mesenquimatosas , Propiedades de Superficie , Titanio , Titanio/química , Materiales Biocompatibles Revestidos/química , Materiales Biocompatibles Revestidos/farmacología , Células Madre Mesenquimatosas/efectos de los fármacos , Cobre/química , Porosidad , Cobalto/química , Animales , Corrosión , Ensayo de Materiales , Células Cultivadas , Prótesis e Implantes
2.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi ; 41(10): 808-813, 2023 Oct 20.
Artículo en Chino | MEDLINE | ID: mdl-37935545

RESUMEN

Objective: To investigate the mechanism of interleukin-6 (IL-6) /signal transducers and activators of transcriptional 3 (STAT3) /helper T cell 17 (Th17) signaling pathway in lung injury of rats with sepsis intervened by forsythia, with a view to provide experimental basis for the role and mechanism of forsythia in the treatment of sepsis. Methods: In July 2021, 30 healthy Wistar male rats were selected and randomly divided into sham operation group, model group and treatment group, with 10 rats in each group. The rat model of sepsis was established by cecal ligation and puncture. 2 h after recovery, the rats were given traditional Chinese medicine forsythia orally, twice a day at an interval of 12 h. The wet/dry mass ratio (W/D) of lung tissue was detected 24 h after surgery. The morphological changes of lung tissue were detected by HE staining. Flow cytometry was used to detect Th17 population in peripheral blood. The expression levels of IL-6 and interleukin-17A (IL-17A) in serum were determined by enzyme-linked immunosorbent assay. The mRNA expression levels of IL-17A and IL-6 in lung tissues were detected by reverse transcription-polymerase chain reaction. The expression levels of STAT3 and IL-17A in lung tissue were determined by Western blotting. Results: Compared with model group, the W/D of lung tissue in treatment group was decreased, and the difference was statistically significant (P<0.05). HE staining of lung tissue showed that compared with the model group, the degree of lung lesion and injury was reduced in the treatment group. Compared with sham operation group, the proportion of Th17 cells in CD4 lymphocytes in peripheral blood of rats in model group was significantly increased (P<0.05). Compared with model group, the proportion of Th17 cells in CD4 lymphocytes in peripheral blood of rats in treatment group was significantly decreased (P<0.05). Compared with sham operation group, peripheral blood serum IL-6 and IL-17 of rats in model group were significantly increased (P<0.05). Compared with model group, IL-6 and IL-17 in peripheral blood serum of rats in treatment group were decreased (P<0.05). Compared with sham operation group, the expressions of IL-17A and IL-6 mRNA in lung tissue of model group were significantly increased (P<0.05). Compared with model group, the expressions of IL-17A and IL-6 mRNA in lung tissue of rats in treatment group were significantly decreased (P<0.05). Compared with sham operation group, the protein expressions of STAT3 and IL-17A in lung tissue in model group were significantly increased (P<0.05). Compared with model group, the pritein expressions of STAT3 and IL-17A in lung tissue in treatment group were significantly decreased (P<0.05) . Conclusion: Forsythia plays a role in alleviating lung injury by down-regulating the expressions of the signaling pathway IL-6/STAT3/Th17, which providing a new target for the treatment of sepsis induced lung injury.


Asunto(s)
Lesión Pulmonar Aguda , Forsythia , Sepsis , Ratas , Masculino , Animales , Ratas Sprague-Dawley , Interleucina-17 , Interleucina-6 , Células Th17 , Ratas Wistar , Transducción de Señal , ARN Mensajero , Factor de Necrosis Tumoral alfa
3.
Artículo en Chino | MEDLINE | ID: mdl-37805430

RESUMEN

Brucellosis can lead to pathological changes of multiple systems. Capillary leak syndrome (CLS) is a clinical syndrome caused by different reasons, mainly characterized by hypotension, hypoproteinemia and systemic edema. The condition is critical and the clinical manifestations are complex, and multiple organ dysfunction syndrome (MODS) may occur in severe cases. CLS caused by brucellosis is extremely rare. The diagnosis and treatment of a patient with brucellosis complicated with CLS and MODS was analyzed in this paper, in order to improve the knowledge of clinicians about brucellosis and its complications.


Asunto(s)
Brucelosis , Síndrome de Fuga Capilar , Humanos , Síndrome de Fuga Capilar/diagnóstico , Síndrome de Fuga Capilar/etiología , Síndrome de Fuga Capilar/terapia , Insuficiencia Multiorgánica/etiología , Brucelosis/complicaciones
5.
Zhonghua Er Ke Za Zhi ; 61(8): 726-730, 2023 Aug 02.
Artículo en Chino | MEDLINE | ID: mdl-37528014

RESUMEN

Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Methods: The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene variation at Children's Hospital Capital Institute of Pediatrics in 2021 were collected retrospectively. Using " PHF21A gene" as the keyword, relevant articles were searched at CNKI, Wanfang Data and PubMed from establishment of databases to February 2023. Clinical and genetic features of IDDBCS were summarized in the combination of this case. Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97th percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like stereotyped behavior and poor eye contact. At 8 months of age, he began to show epileptic seizures, which were in the form of a series of spastic seizures with no reaction to adrenocorticotropic hormone but a good response to vigabatrin. Physical examination showed special craniofacial appearances including a prominent high forehead, sparse eyebrows, broad nasal bridge, and downturned mouth with a tent-shaped upper lip. The patient also manifested hypotonia. Whole exome sequencing showed a de novo heterogeneous variant, PHF21A (NM_001101802.1): c.54+1G>A, and IDDBCS was diagnosed. A total of 6 articles (all English articles) were collected, involving this case and other 14 patients of IDDBCS caused by PHF21A gene variation. Clinical manifestations were intellectual disability or developmental delay (15 patients), craniofacial anomalies (15 patients), behavioral abnormalities (12 patients), seizures (9 patients), and overgrowth (8 patients). The main pathogenic variations were frameshift variations (8 patients). Conclusions: IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. PHF21A gene variation detection helps to make a definite diagnosis.


Asunto(s)
Anomalías Craneofaciales , Discapacidad Intelectual , Masculino , Humanos , Niño , Discapacidad Intelectual/genética , Discapacidades del Desarrollo/genética , Estudios Retrospectivos , Convulsiones/genética , Anomalías Craneofaciales/genética , Histona Desacetilasas/genética
6.
Zhonghua Gan Zang Bing Za Zhi ; 31(7): 723-728, 2023 Jul 20.
Artículo en Chino | MEDLINE | ID: mdl-37580255

RESUMEN

Objective: To investigate the combined effects of patatin-like phospholipase domain containing 3 (PNPLA3) rs738409 (C > G) and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) rs10929303 (C > T) on nonalcoholic fatty liver disease (NAFLD) in children and adolescents so as to provide scientific evidence for NAFLD genetic research. Methods: 1 027 children and adolescents aged 7-18 were selected as the research subjects. The general situation, past medical history, height and body weight measurements, and B- mode ultrasound test of the liver were investigated by dedicated full-time personnel. In addition, the morning fasting venous blood was collected to measure the blood biochemical indicators. DNA was extracted and genotyped for PNPLA3 rs738409 and UGT1A1 rs10929303. Logistic regression analysis was used to analyze the association and combined effect of the two gene polymorphisms and NAFLD. Statistical analysis was performed by t-test, Mann-Whitney U test, or c2 test according to different data. Results: The GG genotype of PNPLA3 rs738409 and the CC genotype of UGT1A1 rs10929303 were associated with an increased risk of developing NAFLD in children by 89% (OR = 1.89, 95% CI: 1.11-3.23, P = 0.019) and 96% (OR = 1.96, 95% CI: 1.21-3.17, P = 0.006), respectively, while the concurrent risk of NAFLD in those who carried the above two genotypes increased by 306% compared with those who did not carry both genotypes (OR = 4.06, 95% CI: 1.90 ~ 8.66, P < 0.001). Conclusion: The combined effect of PNPLA3 and UGT1A1 gene polymorphisms can significantly increase the risk of NAFLD in children, providing new evidence for elucidating the genetic susceptibility to NAFLD.

7.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(8): 1280-1285, 2023 Aug 06.
Artículo en Chino | MEDLINE | ID: mdl-37574324

RESUMEN

As a recognized rare and highly fatal disease, hereditary angioedema (HAE) is difficult to diagnose and characterized by recurrent edema involving the head, limbs, genitals and larynx, etc. Diagnosis of HAE is not difficult. However, low incidence and lack of clinical characteristics lead to difficulty of doctors on timely diagnosis and correct intervention for HAE patients. Therefore, it is crucial to improve the awareness of this disease and prevent its recurrence. for HAE patients. In view of absent cognition of doctors and the general public on HAE, patients often suffer from sudden death or become disabled due to laryngeal edema which cannot be treated in time. Thus, based on the Internet mobile terminal platform, the team set up an all-day rapid emergency response system which is provided for HAE patients by setting up "one-click help". The aim is to offer optimization on overall management of HAE and designed the intelligent follow-up management to provide timely assistance and specialized suggestion for patients with acute attacks.


Asunto(s)
Angioedemas Hereditarios , Humanos , Angioedemas Hereditarios/terapia , Angioedemas Hereditarios/tratamiento farmacológico
8.
Artículo en Chino | MEDLINE | ID: mdl-36882272

RESUMEN

Objective: To investigate the therapeutic effect and mechanism of Liangge Powder against sepsis-induced acute lung injury (ALI) . Methods: From April to December 2021, the key components of Liangge Powder and its targets against sepsis-induced ALI were analyzed by network pharmacology, and to enrich for relevant signaling pathways. A total of 90 male Sprague-Dawley rats were randomly assigned to sham-operated group, sepsis-induced ALI model group (model group), Liangge Powder low, medium and high dose group, ten rats in the sham-operated group and 20 rats in each of the remaining four groups. Sepsis-induced ALI model was established by cecal ligation and puncture. Sham-operated group: gavage with 2 ml saline and no surgical treatment. Model group: surgery was performed and 2 ml saline was gavaged. Liangge Powder low, medium and high dose groups: surgery and gavage of Liangge Powder 3.9, 7.8 and 15.6 g/kg, respectively. To measure the wet/dry mass ratio of rats lung tissue and evaluate the permeability of alveolar capillary barrier. Lung tissue were stained with hematoxylin and eosin for histomorphological analysis. The levels of tumor necrosis factor-alpha (TNF-α), interleukin (IL) -6 and IL-1ß in bronchoalveolar lavage fluid (BALF) were measured by enzyme-linked immunosorbent assay. The relative protein expression levels of p-phosphatidylinositol 3-kinase (PI3K), p-protein kinase B (AKT), and p-ertracellular regulated protein kinases (ERK) were detected via Western blot analysis. Results: Network pharmacology analysis indicated that 177 active compounds of Liangge Powder were selected. A total of 88 potential targets of Liangge Powder on sepsis-induced ALI were identified. 354 GO terms of Liangge Powder on sepsis-induced ALI and 108 pathways were identified using GO and KEGG analysis. PI3K/AKT signaling pathway was recognized to play an important role for Liangge Powder against sepsis-induced ALI. Compared with the sham-operated group, the lung tissue wet/dry weight ratio of rats in the model group (6.35±0.95) was increased (P<0.001). HE staining showed the destruction of normal structure of lung tissue. The levels of IL-6 [ (392.36±66.83) pg/ml], IL-1ß [ (137.11±26.83) pg/ml] and TNF-α [ (238.34±59.36) pg/ml] were increased in the BALF (P<0.001, =0.001, <0.001), and the expression levels of p-PI3K, p-AKT and p-ERK1/2 proteins (1.04±0.15, 0.51±0.04, 2.31±0.41) were increased in lung tissue (P=0.002, 0.003, 0.005). The lung histopathological changes were reduced in each dose group of Liangge Powder compared with the model group. Compared with the model group, the wet/dry weight ratio of lung tissue (4.29±1.26) was reduced in the Liangge Powder medium dose group (P=0.019). TNF-α level [ (147.85±39.05) pg/ml] was reduced (P=0.022), and the relative protein expression levels of p-PI3K (0.37±0.18) and p-ERK1/2 (1.36±0.07) were reduced (P=0.008, 0.017). The wet/dry weight ratio of lung tissue (4.16±0.66) was reduced in the high-dose group (P=0.003). Levels of IL-6, IL-1ß and TNF-α[ (187.98±53.28) pg/ml, (92.45±25.39) pg/ml, (129.77±55.94) pg/ml] were reduced (P=0.001, 0.027, 0.018), and relative protein expression levels of p-PI3K, p-AKT and p-ERK1/2 (0.65±0.05, 0.31±0.08, 1.30±0.12) were reduced (P=0.013, 0.018, 0.015) . Conclusion: Liangge Powder has therapeutic effects in rats with sepsis-induced ALI, and the mechanism may be related to the inhibition of ERK1/2 and PI3K/AKT pathway activation in lung tissue.


Asunto(s)
Lesión Pulmonar Aguda , Experimentación Animal , Sepsis , Masculino , Animales , Ratas , Ratas Sprague-Dawley , Proteínas Proto-Oncogénicas c-akt , Fosfatidilinositol 3-Quinasa , Fosfatidilinositol 3-Quinasas , Polvos , Interleucina-6 , Sistema de Señalización de MAP Quinasas , Farmacología en Red , Factor de Necrosis Tumoral alfa , Lesión Pulmonar Aguda/tratamiento farmacológico , Sepsis/complicaciones , Sepsis/tratamiento farmacológico
9.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(12): 1957-1963, 2023 Dec 06.
Artículo en Chino | MEDLINE | ID: mdl-38186142

RESUMEN

Allergic diseases affect about 40% of the world's population. Environmental factors are important in the occurrence and development of allergic diseases. Dust mites are one of the most important allergens in the indoor environment. The World Health Organization proposes the "four-in-one, combination of prevention and treatment" treatment principle for allergic diseases, in which environmental control to avoid or reduce allergens is the first choice for treatment. Modern people spend much more time at home (including sleeping) than outdoors, and the control of the home environment is particularly critical. This practice introduces the hypoallergenic home visit program, which including home environment assessment, environmental and behavioral intervention guidance, and common household hypoallergenic supplies and service guidance for the patient's home environment. The real-time semi-quantitative testing of dust mite allergens, qualitative assessments of other indoor allergens, record of patients' household items and lifestyle, and precise, individualized patient prevention and control education will be conducted. The hypoallergenic home visit program improves the doctors' diagnosis and treatment data dimension, and becomes a patient management tool for doctors outside the hospital. It also helps patients continue to scientifically avoid allergens and irritants in the environment, effectively build a hypoallergenic home environment, reduce exposure to allergens in the home environment, and achieve the goal of combining the prevention and treatment of allergic diseases.


Asunto(s)
Hospitales , Estilo de Vida , Humanos , Sueño
10.
Zhonghua Yi Xue Za Zhi ; 102(32): 2483-2488, 2022 Aug 30.
Artículo en Chino | MEDLINE | ID: mdl-36008317

RESUMEN

Objective: The gold immunochromatographic assay for detection of SARS-CoV-2 antigen was evaluated by international multi-center clinical trial. Methods: A total of 1 855 clinical parallel samples with valid test results (for nucleic acid and antigen tests, respectively) were collected from nine countries, including Germany, the United Kingdom, Ukraine, France, India, Thailand, Malaysia, the United States of America and Brazil, with sampling period from January 3 to September 22, 2021. These samples were detected by SARS-CoV-2 antigen test kit (colloidal gold immunochromatography assay) and nucleic acid detection kit (real-time fluorescent quantitative reverse transcription polymerase chain reaction). Positive coincidence rates [(number of antigen-positive cases/nucleic acid-positive cases)×100%], negative coincidence rates [(number of antigen-negative cases/nucleic acid-negative cases)×100%], total coincidence rates [(number of cases with consistent results for both antigen and nucleic acid detection/number of total cases) ×100%], as well as Kappa values were calculated. The differences of the above indictors among different countries were evaluated by the coefficient of variation. The detection rates of the antigen test for samples with different cycle threshold values (Ct values) for the nucleic acid detection, different characteristics and different mutant strains were analyzed. Results: For all samples, the positive, negative, and total coincidence rate between the antigen test and nucleic acid assay was 90.8% (569/627), 99.7% (1 224/1 228) and 96.7% (1 793/1 855), respectively, and the consistency coefficient Kappa value was 0.924. Among these countries, the coefficient of variation for positive coincidence rates (except for Malaysia with a lot of samples with Ct value>30), negative coincidence rates (except for France without negative samples) and total coincidence rates (except for France) was 6%,<1%, and 6%, respectively. When Ct values were less than 25, the detection rates of antigen test were 83.3%-100% for each countries (the coefficient of variation was 6%); the total detection rate and the coefficient of variation was 93.4% (428/458) and 5%, respectively, for asymptomatic infected persons and cases within 7 days post onset of symptoms; the total detection rate for various SARS-CoV-2 mutant strains was 97.5% (119/122); and it showed negative results for samples from cases infected with other viruses, including influenza A virus subtype H1N1, influenza B virus, respiratory syncytial virus subgroups A and B, coxsackievirus 16, human metapneumovirus, parainfluenza virus types 1 and 4, Epstein-Barr virus and adenovirus. Conclusion: The SARS-CoV-2 antigen test kit showed excellent authenticity, and there were few differences for its indictors among nine countries, therefore it can meet the needs of large-scale early screening of SARS-CoV-2 infection.


Asunto(s)
COVID-19 , SARS-CoV-2 , COVID-19/diagnóstico , Humanos , Inmunoensayo , SARS-CoV-2/aislamiento & purificación , Sensibilidad y Especificidad
11.
Zhonghua Yi Xue Za Zhi ; 102: 1-6, 2022 Jun 13.
Artículo en Chino | MEDLINE | ID: mdl-35701088

RESUMEN

Objective: The gold immunochromatographic assay for detection of SARS-CoV-2 antigen was evaluated by international multi-center clinical trial. Methods: A total of 1 855 clinical parallel samples with valid test results (for nucleic acid and antigen tests, respectively) were collected from nine countries, including Germany, the United Kingdom, Ukraine, France, India, Thailand, Malaysia, the United States of America and Brazil, with sampling period from January 3, 2021 to September 22, 2021. These samples were detected by SARS-CoV-2 antigen test kit (colloidal gold immunochromatography assay) and nucleic acid detection kit (real-time fluorescent quantitative reverse transcription polymerase chain reaction). Positive coincidence rates [(number of antigen-positive cases/nucleic acid-positive cases)×100%], negative coincidence rates [(number of antigen-negative cases/nucleic acid-negative cases)×100%], total coincidence rates [(number of cases with consistent results for both antigen and nucleic acid detection/number of total cases) ×100%], as well as Kappa values were calculated. The differences of the above indictors among different countries were evaluated by the coefficient of variation. The detection rates of the antigen test for samples with different cycle threshold values (Ct values) for the nucleic acid detection, different characteristics and different mutant strains were analyzed. Results: For all samples, the positive, negative, and total coincidence rate between the antigen test and nucleic acid assay was 90.8% (569/627), 99.7% (1 224/1 228) and 96.7% (1 793/1 855), respectively, and the consistency coefficient Kappa value was 0.924. Among these countries, the coefficient of variation for positive coincidence rates (except for Malaysia with a lot of samples with Ct value>30), negative coincidence rates (except for France without negative samples) and total coincidence rates (except for France) was 6%,<1%, and 6%, respectively. When Ct values were less than 25, the detection rates of antigen test were 83.3%-100% for each countries (the coefficient of variation was 6%); The total detection rate and the coefficient of variation was 93.4% (428/458) and 5%, respectively, for asymptomatic infected persons and cases within 7 days post onset of symptoms; the total detection rate for various SARS-CoV-2 mutant strains was 97.5% (119/122); and it showed negative results for samples from cases infected with other viruses, including influenza A virus subtype H1N1, influenza B virus, respiratory syncytial virus subgroups A and B, coxsackievirus 16, human metapneumovirus, parainfluenza virus types 1 and 4, Epstein-Barr virus and adenovirus. Conclusion: The SARS-CoV-2 antigen test kit showed excellent authenticity, and there were few differences for its indictors among nine countries, therefore it can meet the needs of large-scale early screening of SARS-CoV-2 infection.

12.
Zhonghua Bing Li Xue Za Zhi ; 51(1): 3-6, 2022 Jan 08.
Artículo en Chino | MEDLINE | ID: mdl-34979745

RESUMEN

With the technological progresses and applications of human genome sequencing, bioinformatics analysis and data mining, and molecular pathology and artificial intelligence-assisted pathological diagnosis, the development of clinical medicine is moving towards the era of precision diagnosis and treatment. In the context of this era, the traditional diagnostic pathology is facing unprecedented opportunities and challenges in our history and is striving towards the "next-generation diagnostic pathology" (NGDP). NGDP is based on histomorphology and clinical data, and characterized by the combination of molecular detection and bioinformatics analysis, intelligent sampling and process quality control, intelligent diagnosis and remote consultation, lesion visualization and "non-invasive" pathology as well as other innovative cutting edge interdisciplinary technologies. The NGDP reports will include the results from multi-omics and cross-scale integrated diagnosis for final diagnosis. NGDP will also be applied for predicting disease progression and outcomes, and determining optional therapeutics as well as assessing treatment responses, so that a novel "golden standard" of disease diagnosis can be established. In the near fature, it is necessary to stimulate the innovative vitality of pathology disciplines, accelerate the maturity and application for NGDP, update the theory and technical system of pathology, and perform its important applicable role in the prevention, diagnosis, treatment of diseases so that the futher development of clinical medicine will be promoted and the strategy for maintenance of being healthy in China will be served.


Asunto(s)
Inteligencia Artificial , Biología Computacional , China , Humanos , Patología Molecular
13.
Zhonghua Yi Xue Za Zhi ; 101(48): 3973-3976, 2021 Dec 28.
Artículo en Chino | MEDLINE | ID: mdl-34955001

RESUMEN

A pedigree genetic analysis of a female Duchenne muscular dystrophy (DMD) inherited from paternal chimerism was conducted to explore the genetic diagnosis strategy. No large deletions/duplications was found in the DMD gene of the proband. Next-generation sequencing (NGS) results showed that the proband had a heterozygous mutation in the DMD gene c.4707C>A (p.C1569X). This locus has not been reported in the literature and is considered as a pathogenic mutation. Sanger sequencing revealed that the father of the proband carried the same mutation, and the mosaic ratio was about 17.7%. The specific enzyme digestion test showed that the proband had maternal skewed X-inactivation. DMD a recessive inherited disease of the X chromosome, exists in female patients, and very few of them are inherited from paternal origin. Female patients need to pay close attention to skewed X-inactivation and suspected new mutations. Mosaic is not excluded, especially the inheritance of paternal mosaicism with normal phenotype. Prenatal gene screening is necessary for reproduction.


Asunto(s)
Distrofina , Distrofia Muscular de Duchenne , Distrofina/genética , Femenino , Pruebas Genéticas , Heterocigoto , Humanos , Distrofia Muscular de Duchenne/genética , Mutación , Linaje , Embarazo
14.
Zhonghua Wei Chang Wai Ke Za Zhi ; 24(10): 861-866, 2021 Oct 25.
Artículo en Chino | MEDLINE | ID: mdl-34674460

RESUMEN

Neuroendocrine neoplasms (NEN) is a rare and heterogeneous tumor. Different pathologic morphology, differentiation, grade and clinical stages of the tumors had various treatment and prognosis. Patients with recurrent or metastatic NEN have limited treatment options and poor prognosis. In recent years, PD-1 pathway blockade has become integral components of disease management for many cancers. Immunotherapy is being explored in NEN. Studies have shown that the efficacy of immune monotherapy in NEN is limited, and it can be considered for selected patients. Biomarkers for predicting efficacy of immunotherapy include PD-L1 expression, TMB-H, MSI-H/dMMR, etc. Combined regimens of anti-CTLA-4 and anti-PD-1/PD-L1 inhibitors, and immune checkpoint inhibitor combined with anti-angiogenic drugs or chemotherapy are promising in patients with NEN, and it is worthwhile to further explore of the responding populations.


Asunto(s)
Neoplasias , Tumores Neuroendocrinos , Antígeno B7-H1 , Biomarcadores de Tumor , Humanos , Inmunoterapia , Inestabilidad de Microsatélites , Tumores Neuroendocrinos/terapia
16.
Zhonghua Bing Li Xue Za Zhi ; 50(5): 500-504, 2021 May 08.
Artículo en Chino | MEDLINE | ID: mdl-33915658

RESUMEN

Objective: To study the clinicopathological features of adrenocortical oncocytic tumors (ACOT) and to compare the diagnostic values of Lin-Weiss-Bisceglia (LWB) score and Helsinki score. Methods: Forty-four cases of ACOT diagnosed at Beijing Friendship Hospital, China from March 2008 to July 2019 were histologically analyzed to evaluate their malignant potential (benign versus malignant) according to two scoring criteria. Immunohistochemical studies (EnVision method) were also used. Results: There were 23 males and 21 females with an average age of 46 years. Histologically, the tumor cells were arranged in trabecular, chrysanthemum-shaped, glandular and microcapsule structures, while clear cells were rare or absent. Most of the tumor cells were moderately atypical, and intranuclear inclusion bodies were conspicuous. Immunohistochemical staining showed that tumor cells were positive for Melan A, inhibin, Syn and calretinin. The average proliferation index was 3% in benign ACOT, about 5% in ACOT of malignant potential, and>20% in malignant ACOT. According to the LWB score, 61.4% (27/44) of the tumors were on the left side and had multiple lesions. The percentage of benign ACOT was 59.1% (26/44), malignant potential 6.8% (3/44), malignant 34.1% (15/44), respectively. Among the 15 malignant ACOT, the mitotic figures>5/50 HPF were found in 13 cases, necrosis in 11 cases and capsule invasion in 10 cases. According to the Helsinki score, 65.9% (29/44) of the tumors were benign, and 34.1% (15/44) were malignant. There was no significant difference between the two scoring standards (P>0.05). During the follow-up of 9 to 144 months, 31 patients survived without disease and 13 patients relapsed or had metastasis. Conclusions: ACOT more likely be benign than malignant. The left side is more common. Malignant tumors are prone to recurrence and metastasis. The morphological parameters (high mitotic index, necrosis, and capsular invasion) in the LWB scoring standards combined with immunohistochemical parameters (Ki-67) in the Helsinki score are helpful for the diagnosis of malignant ACOT and are important predictors of poor prognosis.


Asunto(s)
Neoplasias de la Corteza Suprarrenal , Neoplasias Glandulares y Epiteliales , Biomarcadores de Tumor , China , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice Mitótico , Necrosis
17.
Zhonghua Jie He He Hu Xi Za Zhi ; 44(1): 32-37, 2021 Jan 12.
Artículo en Chino | MEDLINE | ID: mdl-33412622

RESUMEN

Objective: To observe the effect of intermittent hypoxia on intestinal bacterial translocation and mesenteric lymph node (MLN) structure and explore its mechanism. Methods: Twenty-four adult male Wistar rats were randomly divided into an experimental group (HI group) and a control group (UC group), with 12 rats in each. During the experiment, both groups were fed under the same conditions, but the HI group received simulated sleep apnea with hypoxic treatment. On the last day of the 2nd and 4th week of the experiment, 20% urethane(0.7 ml/100g) was used for anesthesia, and MLNs and corresponding small intestinal tissues were aseptically collected.HE staining was used to observe the microscopic changes of the tissues. The lymph node tissue was sent for pathogenic culture. The levels of oxide dismutase (SOD), lipid peroxide (MDA) and reactive oxygen species (ROS) were measured for the extent of oxidative stress. Serum diamine oxidase (DAO) was measured to assess the extent of intestinal mucosal damage. Result: MLNs and their corresponding small intestines were damaged in the HI group as compared to the UC group. With the prolongation of intermittent hypoxic time, the number of germinal centers in MLNs was significantly reduced, with the volume reduced, cortical medullary fusion aggravated, and the area ratio increased. The intestinal tissue showed severe damage to the intestinal epithelium, increased permeability, mucosal edema, and changes of the crypts. At the 4th week, MLNs in the HI group grew Clostridium perfringens under anaerobic conditions, confirming intestinal bacterial translocation. The contents of ROS, SOD and MDA in MLNs of the HI group were significantly higher than those in the UC group (P<0.05). At the 2nd week and the 4th week, the contents of ROS, SOD and MDA were not significantly changed in the UC group(P>0.05). While the content of ROS and MDA in MLNs of the HI group at 4th week was significantly higher than that in the second week (P<0.05), but no change of SOD was observed (P>0.05). Serum DAO levels in the HI group were higher than those in the UC group at week 2 and week 4 (P<0.05), suggesting that the degree of intestinal mucosal injury in the HI group was more serious than that in the UC group. Conclusion: Hypoxic exposure aggravated the degree of oxidative stress in rats. With the prolongation of intermittent hypoxia, the intestinal mucosa of rats was seriously damaged. The intestinal flora shifted to damage the structure of mesenteric lymph nodes, and oxidative stress was further aggravated, which in turn affected the integrity of the intestinal autoimmune function.


Asunto(s)
Traslocación Bacteriana , Hipoxia , Mucosa Intestinal/patología , Intestinos/patología , Animales , Ganglios Linfáticos , Masculino , Ratas , Ratas Wistar
18.
Eur Rev Med Pharmacol Sci ; 24(21): 10928-10934, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33215406

RESUMEN

OBJECTIVE: The aim of this study was to investigate the expression of Toll-like receptor 3 (TLR3) gene in the anterior capsule of cataract patients and to explore the correlations of its polymorphisms with the incidence of cataract. PATIENTS AND METHODS: A total of 80 cataract patients (Cataract group) and 38 clear lenses (Control group) were selected as research subjects. Western blotting assay was used to detect the protein expression of TLR3 in Cataract group and Control group. Subsequently, single nucleotide polymorphisms (SNPs) rs128912, rs100321 and rs129103 in the promoter region of TLR3 gene were classified by conformation-difference gel electrophoresis. Reverse transcription-polymerase chain reaction (RT-PCR) was performed to test the correlations of different gene polymorphisms with the protein expression of TLR3. Meanwhile, chi-square test was applied to check whether the distribution frequency of TLR3 genotypes conforms to the Hardy-Weinberg genetic equilibrium law. Furthermore, the associations of alleles and gene polymorphisms of TLR3 with the incidence of cataract were analyzed. RESULTS: Western blotting results found that the protein expression level of TLR3 in the anterior capsule in Cataract group was significantly higher than that in Control group (p<0.05). Hardy-Weinberg genetic equilibrium analysis showed that three TLR3 gene polymorphisms conformed to the genetic equilibrium distribution (p>0.05). Subsequent results demonstrated that the protein expression level of TLR3 in cataract patients with genotype TT of TLR3 gene polymorphism rs128912 was remarkably higher than that in patients with genotypes AA and AT (p<0.05). Moreover, the results of genetic association analysis manifested that only gene polymorphism rs128912 and its alleles were associated with cataract (p<0.05). However, gene polymorphisms rs100321 and rs129103 and their alleles were not correlated with the incidence of cataract (p>0.05). CONCLUSIONS: TLR3 was highly expressed in the anterior capsule of patients with cataract. In addition, rs128912 in the promoter region of TLR3 gene was correlated with the incidence of cataract, while rs100321 and rs129103 were not associated with the incidence of cataract.


Asunto(s)
Catarata/genética , Polimorfismo de Nucleótido Simple/genética , Receptor Toll-Like 3/genética , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad
19.
Zhonghua Xin Xue Guan Bing Za Zhi ; 48(10): 842-847, 2020 Oct 24.
Artículo en Chino | MEDLINE | ID: mdl-33076621

RESUMEN

Objective: We aimed to explore the feasibility and perioperative safety of performing catheter ablation and left atrial appendage closure (LAAC) in a single (one-stop) session in patients with atrial fibrillation (AF). Methods: This study is an observational study. Consecutive AF patients who underwent the combined procedure of catheter ablation and LAAC with Watchman device of Xinhua Hospital in Shanghai between March 2017 and May 2019 were prospectively enrolled. Baseline, intra-and peri-procedural parameters were evaluated. Results: A total of 358 AF patients (189 males, (69.0±8.0) years) underwent the one-stop procedure. The CHA2DS2-VASc score was 3.2±1.5 and HAS-BLED score was 2.4±1.1, respectively in this patient cohort. Pulmonary vein isolation was achieved in all patients, while additional linear ablation was applied in 180 (50.3%) patients, yielding immediate success rate of 99.7%. Successful Watchman implantation was achieved in all patients. The perioperative serious adverse event occurred in 14 cases (3.9%). including 6 pericardial effusions (1.7%), 1 stroke (0.3%) and 5 vascular complications (1.4%), yielding procedure-related complication rate of 3.4%. In addition, 2 (0.6%) new-onset heart failures occurred postoperatively. There was no major bleeding or death during the perioperative period. Conclusions: Combined catheter ablation and LAAC can be successfully and safely performed in AF patients with high stroke risk. Follow-up data are needed to evaluate the outcome of this one-stop procedure.


Asunto(s)
Apéndice Atrial , Ablación por Catéter , Anciano , Apéndice Atrial/cirugía , China , Estudios de Factibilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento
20.
J Colloid Interface Sci ; 579: 71-81, 2020 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-32574730

RESUMEN

The composites of NiCo2O4 with unique structures are extensively explored as promising electrodes. In this work, core-shell structured nanowires anchored on nickel foam are synthesized by the hydrothermal synthesis of NiCo2O4 as core and subsequent electrodeposition of α-Co(OH)2 as shell. The core-shell composites exhibit enhanced electrochemical performances ascribing to the synergistic reactions from both materials, showing higher specific capacitance than any single component. By changing the deposition time, the mass loading of α-Co(OH)2 can be easily controlled. The electrochemical performances of the hybrid electrodes are diverse with the mass loading of Co(OH)2. The optimized hybrid electrode with 3 mins electrodeposition exhibits the highest specific capacitance (1298 F g-1 at 1 A g-1) among all electrodes. The redox reaction is a main contributor to the total specific capacitance through electrochemical kinetics analysis. An asymmetric supercapacitor assembled by the optimized material as positive electrode and activated carbon as negative electrode can achieve a relatively high energy density of 39.7 Wh kg-1 at a power density of 387.5 W kg-1 (at 0.5 A g-1) in a voltage of 1.55 V.

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